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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 15-89300345-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89300345&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89300345,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000310775.12",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "NM_001113378.2",
          "protein_id": "NP_001106849.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 2849,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 2923,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": "ENST00000310775.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "ENST00000310775.12",
          "protein_id": "ENSP00000310842.8",
          "transcript_support_level": 1,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 2849,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 2923,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": "NM_001113378.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "ENST00000674831.1",
          "protein_id": "ENSP00000502474.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1372,
          "cds_start": 2849,
          "cds_end": null,
          "cds_length": 4119,
          "cdna_start": 2957,
          "cdna_end": null,
          "cdna_length": 4239,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "NM_001376911.1",
          "protein_id": "NP_001363840.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 2849,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 2934,
          "cdna_end": null,
          "cdna_length": 4744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "ENST00000696719.1",
          "protein_id": "ENSP00000512832.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 2849,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": 3025,
          "cdna_end": null,
          "cdna_length": 4784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2807G>A",
          "hgvs_p": "p.Ser936Asn",
          "transcript": "ENST00000676003.1",
          "protein_id": "ENSP00000502254.1",
          "transcript_support_level": null,
          "aa_start": 936,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 2807,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 2990,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2669G>A",
          "hgvs_p": "p.Ser890Asn",
          "transcript": "NM_018193.3",
          "protein_id": "NP_060663.2",
          "transcript_support_level": null,
          "aa_start": 890,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 2669,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": 2743,
          "cdna_end": null,
          "cdna_length": 4681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2669G>A",
          "hgvs_p": "p.Ser890Asn",
          "transcript": "ENST00000300027.12",
          "protein_id": "ENSP00000300027.8",
          "transcript_support_level": 5,
          "aa_start": 890,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 2669,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": 2773,
          "cdna_end": null,
          "cdna_length": 4713,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2570G>A",
          "hgvs_p": "p.Ser857Asn",
          "transcript": "NM_001376910.1",
          "protein_id": "NP_001363839.1",
          "transcript_support_level": null,
          "aa_start": 857,
          "aa_end": null,
          "aa_length": 1235,
          "cds_start": 2570,
          "cds_end": null,
          "cds_length": 3708,
          "cdna_start": 2929,
          "cdna_end": null,
          "cdna_length": 4739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2570G>A",
          "hgvs_p": "p.Ser857Asn",
          "transcript": "ENST00000696717.1",
          "protein_id": "ENSP00000512830.1",
          "transcript_support_level": null,
          "aa_start": 857,
          "aa_end": null,
          "aa_length": 1235,
          "cds_start": 2570,
          "cds_end": null,
          "cds_length": 3708,
          "cdna_start": 2928,
          "cdna_end": null,
          "cdna_length": 4718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2312G>A",
          "hgvs_p": "p.Ser771Asn",
          "transcript": "ENST00000696718.1",
          "protein_id": "ENSP00000512831.1",
          "transcript_support_level": null,
          "aa_start": 771,
          "aa_end": null,
          "aa_length": 1149,
          "cds_start": 2312,
          "cds_end": null,
          "cds_length": 3450,
          "cdna_start": 2809,
          "cdna_end": null,
          "cdna_length": 4590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2147G>A",
          "hgvs_p": "p.Ser716Asn",
          "transcript": "ENST00000561894.1",
          "protein_id": "ENSP00000455189.1",
          "transcript_support_level": 2,
          "aa_start": 716,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 2147,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": 2148,
          "cdna_end": null,
          "cdna_length": 3268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_011521756.3",
          "protein_id": "XP_011520058.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": 2849,
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          "cdna_start": 2957,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432789.1",
          "protein_id": "XP_047288745.1",
          "transcript_support_level": null,
          "aa_start": 950,
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          "aa_length": 1328,
          "cds_start": 2849,
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          "cds_length": 3987,
          "cdna_start": 4201,
          "cdna_end": null,
          "cdna_length": 6139,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432790.1",
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          "cdna_start": 3041,
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          "cdna_length": 4979,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432791.1",
          "protein_id": "XP_047288747.1",
          "transcript_support_level": null,
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          "aa_length": 1328,
          "cds_start": 2849,
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          "cdna_start": 3007,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432792.1",
          "protein_id": "XP_047288748.1",
          "transcript_support_level": null,
          "aa_start": 950,
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          "cds_start": 2849,
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          "cdna_start": 3025,
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        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
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          "transcript": "XM_047432793.1",
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        },
        {
          "aa_ref": "S",
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          "strand": true,
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            "missense_variant"
          ],
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          "gene_symbol": "FANCI",
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          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432794.1",
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn",
          "transcript": "XM_047432795.1",
          "protein_id": "XP_047288751.1",
          "transcript_support_level": null,
          "aa_start": 950,
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          "cds_start": 2849,
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          "cds_length": 3987,
          "cdna_start": 3059,
          "cdna_end": null,
          "cdna_length": 4997,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FANCI",
      "gene_hgnc_id": 25568,
      "dbsnp": "rs760327010",
      "frequency_reference_population": 0.000013010653,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 21,
      "gnomad_exomes_af": 0.0000109458,
      "gnomad_genomes_af": 0.0000328274,
      "gnomad_exomes_ac": 16,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.03708478808403015,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.052,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0966,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.788,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000310775.12",
          "gene_symbol": "FANCI",
          "hgnc_id": 25568,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2849G>A",
          "hgvs_p": "p.Ser950Asn"
        }
      ],
      "clinvar_disease": "Fanconi anemia",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Fanconi anemia",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}